Determination of serum miRNA-29 level in children diagnosed with Duchenne Muscular Dystrophy and evaluation of miRNA-29 as a biomarker

Karakale G. Determination of serum miRNA-29 level in children diagnosed with Duchenne Muscular Dystrophy and evaluation of miRNA-29 as a biomarker. İstanbul, Türkiye: Yeditepe University, Institute of Health Sciences, Department of Molecular Medicine; 2025. Aim: Duchenne muscular dystrophy (DMD) is a serious, progressive hereditary illness that mostly affects young boys and is characterized by muscle weakening and degradation. DMD results from mutations in the dystrophin gene leading to the lack of dystrophin protein, essential for the integrity of muscle cells. Caspases 3 and miRNA-29 are known to be involved in apoptotic cell death and muscle cell function regulation, respectively. This research aims to determine whether these biomarkers are altered in DMD and to assess their utility as prognostic and diagnostic tools for the disease. Materials and Methods: This study involved 23 pediatric DMD patients diagnosed and 62 healthy controls. Serum samples were collected from all participants and miRNA-29c levels were measured using Quantitative Polymerase Chain Reaction (qPCR) while Caspase-3 levels were measured using enzyme-linked immunosorbent assay (ELISA). Results: The patient group demonstrated statistically significant lower levels of both miRNA-29c and Caspase-3. These findings suggest that decreased expression of miRNA-29c and Caspase-3 may serve as important biomarkers associated with disease diagnosis and progression, highlighting their potential role in the pathophysiology of the condition. Keywords: Duchenne Muscular Dystrophy, miRNA-29c, Caspase-3, apoptosis, biomarker.